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Fluorescence in situ Hybridization (FISH) - Bone Marrow Aspirate/Unstimulated Peripheral Blood

Alternate test name

Bone marrow FISH tests (testing will be based on indication)


Pediatric ALL

  • B-ALL FISH panel
  • B-ALL Ph-like ABL class FISH probes (ABL1, ABL2, PDGFRB)
  • Enumeration probes

o Chromosomes 4, 10

  • BCR-ABL1
  • KMT2A (MLL)
  • TCF3 (E2A)
  • CDKN2A (P16)
  • IGH
  • CRLF2
  • ZNF384
  • TCRa/d
  • ABL1
  • ABL2

Pediatric AML

  • CBFB-MYH11
  • KMT2A (MLL)
  • NUP98
  • Enumeration probes

o Chromosomes 5 and 7


Other Hematological

  • Enumeration probes

o Chromosomes 7 and 8

Lab area
Genome Diagnostics - Cytogenetics
Method and equipment
Direct preparation and unstimulated 24 hour culture; FISH (Fluorescence in situ hybridization)
Expected turn-around time
2-5 days
Specimen type

Bone Marrow Aspirate; 
or Peripheral Blood

Specimen requirements

1.5 mL minimum; 2-3 mL if possible

Storage and transportation

Maintain at room temperature. Do not refrigerate or freeze. Ship sample overnight at room temperature for receipt at SickKids Cytogenetics Laboratory within 24 hours of collection.

Special requirements

Collect sample in sodium heparin (rinse syringe with 100 U.S.P. unit/mL of preservative-free Sodium Heparin)

For aspirate: relocate needle prior to sampling if possible.

If the bone marrow aspirate sample is from a new diagnosis leukemia patient, and is less than the recommended volume, submit peripheral blood in sodium heparin in addition to bone marrow aspirate.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance


Disease condition

Acute lymphoblastic leukemia, Acute Myeloid leukemia, Chronic myeloid leukemia, Eosinophilia

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